ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3850A>G (p.Ile1284Val)

dbSNP: rs775206529
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370360 SCV001566831 uncertain significance Neurofibromatosis, type 1 2020-09-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NF1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs775206529, ExAC 0.006%). This sequence change replaces isoleucine with valine at codon 1284 of the NF1 protein (p.Ile1284Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.